Canonical Allele Identifier: CA390513571

Gene: POMT2

Linked Data

• gnomAD v4: 14-77278473-A-C
• MyVariant Identifiers: chr14:g.77744816A>C (hg19) ; chr14:g.77278473A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278473A>C , CM000676.2:g.77278473A>C	GRCh38
NC_000014.8:g.77744816A>C , CM000676.1:g.77744816A>C	GRCh37
NC_000014.7:g.76814569A>C	NCBI36
NG_008897.1:g.47410T>G , LRG_844:g.47410T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.993T>G
ENST00000556394.2:c.1609T>G	ENSP00000451967.2:p.Trp537Gly
ENST00000682247.1:c.2057T>G	ENSP00000507213.1:p.Leu686Arg
ENST00000682395.1:n.2532T>G
ENST00000682459.1:n.1771T>G
ENST00000682467.1:c.1927T>G	ENSP00000508062.1:p.Trp643Gly
ENST00000682795.1:c.2215T>G	ENSP00000507574.1:p.Trp739Gly
ENST00000682895.1:n.1784T>G
ENST00000682955.1:n.1642T>G
ENST00000683188.1:c.2329T>G
ENST00000683380.1:n.1732T>G
ENST00000683907.1:c.333T>G	ENSP00000507754.1:n.333T>G
ENST00000684259.1:n.3835T>G
ENST00000684538.1:n.1447T>G
ENST00000684549.1:n.1619T>G
ENST00000261534.9:c.2068T>G MANE Select	ENSP00000261534.4:p.Trp690Gly
ENST00000261534.8:c.2068T>G	ENSP00000261534.4:p.Trp690Gly
ENST00000452340.7:n.3044T>G
ENST00000554767.5:n.2854T>G
ENST00000555710.1:c.429T>G	ENSP00000451730.1:n.429T>G
ENST00000556394.1:c.123T>G
ENST00000556446.1:n.369T>G
ENST00000602717.5:c.283T>G	ENSP00000487704.1:p.Trp95Gly
NM_013382.5:c.2068T>G , LRG_844t1:c.2068T>G	NP_037514.2:p.Trp690Gly
XM_011536675.1:c.2257T>G	XP_011534977.1:p.Trp753Gly
XM_011536676.1:c.1924T>G	XP_011534978.1:p.Trp642Gly
XM_011536677.1:c.1798T>G	XP_011534979.1:p.Trp600Gly
XM_011536679.1:c.1351T>G	XP_011534981.1:p.Trp451Gly
XR_943416.1:n.2321T>G
XM_011536675.2:c.2257T>G	XP_011534977.1:p.Trp753Gly
XM_011536676.2:c.1924T>G	XP_011534978.1:p.Trp642Gly
XM_011536677.3:c.1798T>G	XP_011534979.1:p.Trp600Gly
XR_001750279.1:n.2354T>G
XR_001750282.1:n.3007T>G
XR_943416.3:n.2319T>G
NM_013382.6:c.2068T>G	NP_037514.2:p.Trp690Gly
NM_013382.7:c.2068T>G MANE Select	NP_037514.2:p.Trp690Gly